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Dianne Frazier, PhD, MPH, RD

Dianne Frazier, PhD, MPH, RD   
Contact Information
(919) 966-9569 Main Office

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Roles
Academic Contact
Dietitian
Metabolic Nutritionist
NBS Program Contact
Shortterm follow up

Primary Job Title
Metabolic dietitian and professor emeritus

Centers & Contact Information
Biography
Dianne Frazier, PhD, MPH, RD is a professor emeritus of pediatrics in the Division of Genetics and Metabolism at the University of North Carolina at Chapel Hill. Upon her retirement from the University in 2012, she was awarded the Order of the Long Leaf Pine by the Governor for her contributions to the people of NC. Dianne’s early training and doctorate were in biochemistry. Her first faculty appointment was in UNC’s Department of Biochemistry where one of her early assignments was to coordinate teaching of biochemistry in the Medical School. It was during that time that she began using a clinical approach (inborn errors of metabolism- IEM) to teach biochemical pathways. This became such a focus of hers that she earned her MPH in the UNC School of Public Health’s Department of Nutrition. After getting her RD, she began working with metabolic patients as well as teaching. Her laboratory work included developing techniques for newborn screening (NBS). She has been on the NC Newborn Screening Advisory Board for 33 years. Dianne has authored nine book chapters, published and presented scores of articles on inborn errors of metabolism, has taught, coordinated the follow-up for NC tandem mass spectrometry newborn screening, and followed metabolic patients at UNC.   She has been active in the Southeastern Regional Genetic Group (SERGG) and participated in several federal initiatives dealing with IEM and NBS. She was a GMDI founding member, chair of the Research Committee (2006-09) and has held the offices of secretary, president elect and president of the GMDI Board (2009-12). Presently, she also chair of the working committee for the writing of nutrition guidelines for amino acidopathies and has recently led the team to complete  the nutrition management guideline for MSUD.

Areas of Expertise

Newborn screening, inborn errors of metabolism

Education

PhD (Biochemistry) Duke University, Durham, NC
MPH (Nutrition) UNC, Chapel Hill, NC
BA (Chemistry) Drew University, Madison, NJ

Selected Publications
  1. Marquardt G et al. Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med. Advance online publication 2/16/2012.
  2. McHugh DM, el al. Clinical Validation of Cutoff Target Ranges in Newborn Screening of Metabolic Disorders by Tandem Mass Spectrometry: A Worldwide Collaborative Project. Genet Med. 2011 Mar; 13(3):230-54.
  3. Frazier DM, Tandem mass spectrometry newborn screening and its impact on inborn errors of metabolism. Topics in Clinical Nutrition, (2009) 24: 275-288.
Nutrition Management Guidelines Activity
2008 - Present

SERN Highlights
October 2017

FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders

FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders

The U.S. Food and Drug Administration today permitted marketing of the Seeker System for the screening of four, rare Lysosomal Storage Disorders (LSDs) in newborns. The Seeker system is designed to detect Mucopolysaccharidosis Type I (MPS I), Pompe , Gaucher and Fabry . It is the first newborn screening test permitted to be marketed by the FDA for these disorders.

LSDs are a group of rare, inherited metabolic disorders in which enzymes (proteins) that normally eliminate unwanted substances in the body's cells are not at normal levels or functioning properly. According to the U.S. Department of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children, MPS I, Pompe, Gaucher and Fabry occur in approximately 1 in 1,500 to no more than 1 in 185,000 newborns and children, depending on the disorder. If not detected and treated in a timely manner, these disorders may cause organ damage, neurological disability or death.
 
"The Secretary of HHS recently added Pompe and MPS I to the list of routine recommended newborn screening programs and it is anticipated that additional states will begin requiring use of screening tests to detect these disorders," said Alberto Gutierrez, Ph.D., director of the Office of In Vitro Diagnostics and Radiological Health in the FDA's Center for Devices and Radiological Health. "Accurate screening tests will help with early detection, treatment and control of these rare disorders in newborns, before permanent damage occurs. That's why availability of LSD screening methods that have been assessed for accuracy and reliability by the FDA are so important."
 
Several states currently mandate LSD screening in all newborns, including Arizona, Illinois, Kentucky, Michigan, Missouri, New Jersey, New Mexico, New York, Ohio, Pennsylvania and Tennessee. However, until today there were there were no FDA-authorized devices for screening of these disorders. Availability of the Seeker System provides laboratories with a screening tool that has been reviewed by the FDA for clinical and analytical validity.
 
The Seeker System, consisting of the Seeker LSD Reagent Kit- IDUA|GAA|GBA|GLA and Seeker Instrument, works by measuring the activity level of proteins required for healthy lysosomal storage found in dried blood samples collected from the prick of a newborn's heel 24 to 48 hours after birth. The Seeker Instrument is a device that automates the analysis of dried blood spots. Reduced enzyme activity of proteins associated with any of the four LSDs detected by the kit may indicate presence of a disorder. Results showing reduced enzyme activity must be confirmed using other testing methods, such as biopsies, genetic and other laboratory tests.
 
The FDA reviewed the data for the Seeker System through the de novo premarket review pathway, a regulatory pathway for devices of a new type with low-to-moderate-risk that are not substantially equivalent to an already legally marketed device and for which special controls can be developed, in addition to general controls, to provide a reasonable assurance of safety and effectiveness of the devices. During this process, the FDA evaluated data from a clinical study of 154,412 newborns in Missouri whose dried blood samples were tested for protein activity associated with MPS I, Pompe, Gaucher and Fabry. Efficacy was determined because the system was able to accurately identify at least one of each of these four LSDs in 73 of the screened newborns.
 
Risks associated with use of the screening system include false negative findings. As part of this study, the Missouri State Public Health Laboratory conducted active surveillance of four of the state's metabolic clinical centers for new diagnoses of these disorders. The state laboratory's surveillance activities extended 15 months following the study's completion to determine cases of false negatives that had not been identified during the study. No false negative results were identified either through the study or the state's 15-month surveillance program.
 
The Seeker System was created with funding from the Small Business Innovation Research program in National Institutes of Health's Eunice Kennedy Shriver National Institute of Child Health and Human Development. It is manufactured by Baebies Inc., located in Durham, North Carolina.
 
The FDA, an agency within the U.S. Department of Health and Human Services, promotes and protects the public health by, among other things, assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nation's food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.
 
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JELILI OJODU, MPH | Director, Newborn Screening and Genetics
Association of Public Health Laboratories | Analysis. Answers. Action.
P +1 240.485.2772 | F +1 240.485.2700 | jelili.ojodu@aphl.org
 
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